Visual impairment due to macular disciform scars in a 20-year-old man with Smith-Magenis syndrome: Another ophthalmologic complication
| Autor: | Dennis M. Robertson, Syed M. Jalal, Dusica Babovic-Vuksanovic, James A. Garrity, Noralane M. Lindor |
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| Rok vydání: | 1998 |
| Předmět: |
medicine.medical_specialty
Optic nerve hypoplasia genetic structures business.industry Retinal detachment Telecanthus Macular degeneration medicine.disease eye diseases Ophthalmology medicine Maculopathy sense organs Ophthalmologic Complication Hypertelorism medicine.symptom business Exotropia Genetics (clinical) |
| Zdroj: | American Journal of Medical Genetics. 80:373-376 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/(sici)1096-8628(19981204)80:4<373::aid-ajmg13>3.0.co;2-m |
| Popis: | We describe a 20-year-old man with Smith-Magenis syndrome and a 46,XY,del(17)(p11.2p11.2) karyotype. The interstitial deletion was confirmed by metaphase analysis using the fluorescent in situ hybridization probe (D17S29) for the Smith-Magenis region. The patient had hypertelorism, exotropia, and high myopia. Examination under anesthesia showed a lacquer crack near the right macula and a disciform scar of the left macula. Six months later, the patient presented with subacute visual loss. Examination demonstrated end-stage macula degeneration with bilateral disciform scars. There was no evidence of retinal detachment. Prior reports of Smith-Magenis syndrome mention telecanthus, ptosis, strabismus, iris anomalies, cataract, microcornea, optic nerve hypoplasia, myopia, retinal detachment, and lattice retinal degeneration. Bilateral macular degeneration has not been reported previously, and it may be an additional ophthalmologic manifestation of Smith-Magenis syndrome, either as a primary manifestation or as a direct consequence of high myopia. |
| Databáze: | OpenAIRE |
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